Aliases for BMP8B Gene
External Ids for BMP8B Gene
Previous HGNC Symbols for BMP8B Gene
Previous GeneCards Identifiers for BMP8B Gene
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The encoded protein stimulates thermogenesis in brown adipose tissue. Expression of this gene may be downregulated in pancreatic cancer. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]
GeneCards Summary for BMP8B Gene
BMP8B (Bone Morphogenetic Protein 8b) is a Protein Coding gene. Diseases associated with BMP8B include Blue Color Blindness and Achondroplasia. Among its related pathways are SMAD Signaling Network and Akt Signaling. GO annotations related to this gene include cytokine activity and transforming growth factor beta receptor binding. An important paralog of this gene is BMP8A.
UniProtKB/Swiss-Prot for BMP8B Gene
Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity).